Canonical Allele Identifier: CA208575

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 210916
• ClinVar RCV Id: RCV000194417 ; RCV001362501
• dbSNP Id: rs797045552
• MyVariant Identifiers: chr9:g.140638466A>G (hg19) ; chr9:g.137744014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137744014A>G , CM000671.2:g.137744014A>G	GRCh38
NC_000009.11:g.140638466A>G , CM000671.1:g.140638466A>G	GRCh37
NC_000009.10:g.139758287A>G	NCBI36
NG_011776.1:g.130023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1094A>G MANE Select	ENSP00000417980.1:p.Glu365Gly
ENST00000629335.2:c.1094A>G	ENSP00000490056.1:p.Glu365Gly
ENST00000636027.1:c.980A>G	ENSP00000489961.1:p.Glu327Gly
ENST00000637161.1:c.1001A>G	ENSP00000490328.1:p.Glu334Gly
ENST00000637261.1:c.1134A>G	ENSP00000490815.1:n.1134A>G
ENST00000637318.1:c.218A>G	ENSP00000490611.1:p.Glu73Gly
ENST00000637977.1:c.1039A>G
ENST00000638071.1:c.799A>G
ENST00000640639.1:c.263A>G	ENSP00000491823.1:p.Glu88Gly
ENST00000371394.6:c.*829A>G	ENSP00000485945.1:n.*829A>G
ENST00000460843.5:c.1094A>G	ENSP00000417980.1:p.Glu365Gly
ENST00000462484.5:c.1094A>G	ENSP00000417328.1:p.Glu365Gly
ENST00000478940.1:n.385A>G
ENST00000495657.5:n.444A>G
ENST00000626066.2:c.997A>G
ENST00000629808.2:c.265A>G
NM_001145527.1:c.1094A>G	NP_001138999.1:p.Glu365Gly
NM_024757.4:c.1094A>G	NP_079033.4:p.Glu365Gly
XM_005266105.3:c.1085A>G	XP_005266162.1:p.Glu362Gly
XM_005266110.1:c.1001A>G	XP_005266167.1:p.Glu334Gly
XM_006717288.2:c.1076A>G	XP_006717351.1:p.Glu359Gly
XM_011519021.1:c.1103A>G	XP_011517323.1:p.Glu368Gly
XM_011519022.1:c.1100A>G	XP_011517324.1:p.Glu367Gly
XM_011519023.1:c.1082A>G	XP_011517325.1:p.Glu361Gly
XM_011519024.1:c.1103A>G	XP_011517326.1:p.Glu368Gly
XM_011519025.1:c.1001A>G	XP_011517327.1:p.Glu334Gly
XM_011519026.1:c.1103A>G	XP_011517328.1:p.Glu368Gly
XM_011519027.1:c.1103A>G	XP_011517329.1:p.Glu368Gly
XM_011519028.1:c.1103A>G	XP_011517330.1:p.Glu368Gly
XM_011519033.1:c.1082A>G	XP_011517335.1:p.Glu361Gly
NM_001354259.1:c.1001A>G	NP_001341188.1:p.Glu334Gly
NM_001354263.1:c.1073A>G	NP_001341192.1:p.Glu358Gly
NM_001354611.1:c.1094A>G	NP_001341540.1:p.Glu365Gly
NM_001354612.1:c.1001A>G	NP_001341541.1:p.Glu334Gly
XM_005266105.5:c.1085A>G	XP_005266162.1:p.Glu362Gly
XM_011519021.3:c.1103A>G	XP_011517323.1:p.Glu368Gly
XM_011519022.3:c.1100A>G	XP_011517324.1:p.Glu367Gly
XM_011519023.3:c.1082A>G	XP_011517325.1:p.Glu361Gly
XM_017015134.1:c.1079A>G	XP_016870623.1:p.Glu360Gly
XM_017015136.2:c.1073A>G	XP_016870625.1:p.Glu358Gly
XM_017015137.1:c.980A>G	XP_016870626.1:p.Glu327Gly
XM_017015138.1:c.980A>G	XP_016870627.1:p.Glu327Gly
XM_024447674.1:c.1001A>G	XP_024303442.1:p.Glu334Gly
XM_024447675.1:c.1001A>G	XP_024303443.1:p.Glu334Gly
XM_024447676.1:c.218A>G	XP_024303444.1:p.Glu73Gly
XM_024447677.1:c.218A>G	XP_024303445.1:p.Glu73Gly
XM_024447678.1:c.1001A>G	XP_024303446.1:p.Glu334Gly
XM_024447679.1:c.1001A>G	XP_024303447.1:p.Glu334Gly
XM_024447680.1:c.980A>G	XP_024303448.1:p.Glu327Gly
NM_024757.5:c.1094A>G MANE Select	NP_079033.4:p.Glu365Gly
NM_001145527.2:c.1094A>G	NP_001138999.1:p.Glu365Gly
NM_001354259.2:c.1001A>G	NP_001341188.1:p.Glu334Gly
NM_001354263.2:c.1073A>G	NP_001341192.1:p.Glu358Gly
NM_001354611.2:c.1094A>G	NP_001341540.1:p.Glu365Gly
NM_001354612.2:c.1001A>G	NP_001341541.1:p.Glu334Gly